ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.2916G>A (p.Pro972=)

gnomAD frequency: 0.00003  dbSNP: rs373200316
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818891 SCV000959528 uncertain significance Epileptic encephalopathy 2022-07-12 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 661467). This variant has not been reported in the literature in individuals affected with FASN-related conditions. This variant is present in population databases (rs373200316, gnomAD 0.01%). This sequence change affects codon 972 of the FASN mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FASN protein.

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